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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5426 - 5450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050888	syndromic intellectual disability	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)
DOID:2557	chondromalacia	ACAN IL1R1	176 3554	Homo sapiens (human)
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	b4galt1.1.L b4galt1.1.S b4galt1.2.L b4galt1.2.S	108706812 108706813 108712215 108712216	Xenopus laevis (African clawed frog)
DOID:0110660	congenital myasthenic syndrome 12 Aliases: CMS12 congenital myasthenia 12 with tubular aggregates	GFPT1	2673	Homo sapiens (human)
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	foxo1a parp1	560788 768121	Danio rerio (zebrafish)
DOID:0060058	lymphoma Aliases: lymphoid cancer	ABO ACAA1 ACACA ACE ACOX1 ACSBG1 ACSF3 AKR1A1 AKR1C1 AKR1C3 ALG1 ALOX12 ALPI ALPP AMT ANXA5 APRT ATRNL1 CALR CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEL CFC1 CHPT1 CLEC10A CNTN2 COMT CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP3A4 DHDDS ENO2 ENOSF1 EPHX2 EPM2A FCER2 FCGR3B FCN2 FH FMOD G6PD GBA1 GCSH GGT1 GLB1 GPC5 GPI GPX1 HEXA HK2 HMMR HPGDS HPRT1 HPSE HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 KLRK1 LDHA LGALS1 LGALS3 LGALS9 LY6K MASP2 MBL2 MCAT MLYCD MRC1 MTAP NAMPT NCAM1 NDUFAB1 NTHL1 OGG1 OPCML PAFAH1B1 PAFAH1B2 PARP1 PARP4 PARP9 PC PGM3 PGP PIGK PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PLD2 PLOD3 PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SDC1 SELE SELL SHMT1 SHMT2 SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 ST6GALNAC5 STS SULT1E1 TIGAR TKTL1 TMEM260 TMTC3 TNFRSF10C UNG VCAM1 VTCN1	10026 1012 10135 10327 10462 1056 10747 10855 10998 1312 142 143 1543 1545 1555 1559 1571 1576 1586 1591 1594 1604 160418 1636 1645 197322 2026 2053 2208 2215 2220 2262 2271 22914 23205 2331 23417 23583 239 248 250 2539 26033 2629 2653 2678 2720 27306 27349 275 28 2821 283871 2876 30 3073 308 3099 31 3161 3251 3383 3417 3418 347734 353 3554 3635 3821 3824 3939 3956 3958 3965 412 4153 4360 4507 4684 4706 4860 4913 4968 4978 5048 5049 5091 51 51477 5238 5290 5291 5293 5294 5336 5338 54742 54916 5506 55556 55997 56052 56848 56994 57103 5728 5730 5743 6382 6401 6402 6470 6472 65078 6515 6646 6783 6900 7355 7374 7412 7957 79679 79947 811 81849 821 8277 83666 847 8644 8692 8794 8821 8985 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)
DOID:12351	alcoholic hepatitis Aliases: acute alcoholic hepatitis acute alcoholic liver disease	ACE ADH1A ADH1B ADH1C ADH4 AGA AKR1A1 AKR1B1 ALDH1B1 ALDH2 CD14 CD74 CEACAM5 CERS6 CHST3 CPT1A CYP1A1 CYP2E1 CYP7A1 FUT1 GAPDH HK2 HPGDS HSPG2 ICAM1 IL18R1 IL1R1 MBOAT7 MRC1 NAMPT NCAN PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 PPARA PRNP SIRT6 SLC17A5 SMPD1 SPHK2 ST6GAL1 ST8SIA4 STS SULT1E1 TBXAS1 TNF	10135 10327 1048 124 125 126 127 1374 1463 1543 1571 1581 1636 175 217 219 231 2523 253782 2597 26503 27306 3099 3339 3383 3554 412 4360 51548 5290 5291 5293 5294 5465 5621 56848 6480 6609 6783 6916 7124 7903 79143 80339 8809 929 9469 972	Homo sapiens (human)
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	ABO ACACA ACAN ACE ACHE ACOT4 ACOT7 ACOX1 ACSM3 ACSS2 ACYP2 ADH1B ADH1C ADPRS AGXT AKR1A1 AKR1B1 ALDH2 ALDH7A1 ALG1 ALOX12 ALOX5 AMACR APRT ARSA ATP6AP2 BCKDHA CALR CAT CD14 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CHAT CHI3L1 CHIT1 CLEC16A CLEC1B COMT CSPG4 CYP11B1 CYP11B2 CYP19A1 CYP1A1 CYP24A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP46A1 CYP4A11 CYP4F2 DCN DHCR24 DLD EBP EFNA5 ENO1 ENO2 ENPP1 ENPP2 EPHX2 FADS1 FADS2 FCGR3B FCN1 FCN2 FUT1 G6PD GAL3ST1 GALNT2 GALNT3 GBE1 GFRA1 GGT1 GLA GLCE GLO1 GLUL GPI GPX1 GPX3 HACD1 HADHA HJV HK2 HPGDS HPSE2 HPSE HSD11B2 HSPG2 ICAM1 IDS IL18R1 IL18RAP IL1R1 IL1RL1 IMPA1 IMPA2 INPP5D INPP5K INPPL1 ISYNA1 ITPK1 KL LCAT LDHC LGALS1 LGALS2 LGALS3 LGALS9 LIPC LPL LTA4H LTC4S MAG MAN2B2 MASP1 MASP2 MBL2 ME1 MGLL MMUT MRC1 MTAP NAAA NAMPT NANS NCAM1 NDUFAB1 NEIL1 NT5E NTNG1 OGG1 OLR1 PARP1 PC PCYT1A PFKFB3 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1L3 PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLCG1 PLPP3 PRG3 PRKAA2 PRNP PRSS21 PTEN PTGES PTGIS PTGS1 PTGS2 QTRT1 RENBP RGMB RTN4R SACM1L SCD SDC1 SDC4 SELE SELL SELP SEMA7A SFTPA1 SFTPD SHMT1 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A10 SLC33A1 SLC35A1 SLC39A8 SLC5A1 SMPD1 SMUG1 SOAT1 SPHK2 ST3GAL4 ST8SIA4 STS SULT1E1 TBXAS1 TIGAR TM7SF2 TMED9 TNKS UGCG UGT1A1 UGT2B4 UMOD UNG VCAM1 VCAN XYLB XYLT1 XYLT2	1012 10135 10159 10327 10394 1048 10559 10682 10747 10855 10858 1087 10942 1103 1116 1118 11332 11343 120227 122970 125 126 1312 142 1462 1464 148738 1543 1555 1557 1558 1559 1571 1573 1576 1577 1579 1584 1585 1588 1591 1634 1636 1718 1738 176 189 1946 2023 2026 2053 217 2215 2219 2220 22854 22908 22933 231 23274 23324 23583 23600 23659 239 240 2523 2539 2590 2591 26035 2632 26503 2674 2678 27036 27163 2717 27306 2739 2752 28 2821 285704 2876 2878 3030 3099 31 3291 3339 3383 3423 342372 353 3554 3612 3613 3635 3636 3705 3931 3948 3956 3957 3958 3965 3990 3992 4023 4048 4056 4099 410 412 4153 4199 43 4360 4507 4594 4684 4706 4907 4968 4973 501 5091 51 51266 5130 51477 51548 5167 5168 51763 5209 5287 5290 5291 5293 5294 5315 5319 5320 5321 5335 54187 54658 54732 54936 5563 55902 56052 5621 5648 56848 57103 5728 5740 5742 5743 593 5973 60495 6296 6319 6382 6385 6401 6402 6403 64116 64131 64132 6441 6470 6484 65078 6523 653509 6609 6646 6783 6916 7108 7357 7363 7369 7374 7412 7903 7941 79661 81031 811 81890 8398 847 8482 8529 8613 8658 8807 8809 9173 9197 9200 929 9365 9415 9514 952 9536 960 972 98 9942	Homo sapiens (human)
DOID:2536	chronic inflammatory demyelinating polyneuritis	CNTN1 CNTN2 GBE1 HPRT1 MAG PTGS2	1272 2632 3251 4099 5743 6900	Homo sapiens (human)
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	pgk-1	171965	Caenorhabditis elegans
DOID:6811	juvenile pilocytic astrocytoma	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:0111069	congenital bile acid synthesis defect 2 Aliases: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency	AKR1D1	6718	Homo sapiens (human)
DOID:0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Aliases: MALT lymphoma MALT lymphoma of the dura mucosa-associated lymphoid tissue lymphoma	CEL CHST2 FCER2 HPGDS PARP9 PTGS1 PTGS2 SELL SLC27A5 SMUG1	1056 10998 2208 23583 27306 5742 5743 6402 83666 9435	Homo sapiens (human)
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	Adrb1 Gclc Lep Ppara Tlr4 Tnf	24835 24925 25283 25608 25747 29260	Rattus norvegicus (Norway rat)
DOID:13922	eosinophilic esophagitis	AGA AGXT ALOX15 ALOX5 ANXA5 CD1D CD44 CHIA CLC CLEC16A CYP2C19 ICAM1 IL18R1 IL1RL1 LALBA LCT LTC4S MPG OGDHL PRG2 PTGS2 SGSH SIGLEC8 SOAT1 VCAM1	1178 1557 175 189 23274 240 246 27159 27181 308 3383 3906 3938 4056 4350 5553 55753 5743 6448 6646 7412 8809 912 9173 960	Homo sapiens (human)
DOID:9775	diastolic heart failure	ACE CYP27B1 LEPR	1594 1636 3953	Homo sapiens (human)
DOID:127	leiomyoma Aliases: leiomyomatous neoplasm leiomyomatous tumor	ACE AKR1B1 CD38 CD44 CHST3 COG5 COG6 COMT CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2B6 CYP4F3 DHCR24 EBP EDEM2 ENO1 FASN FH FMOD GLB1 HPGDS HPSE2 HSD17B1 HSD17B2 HSD17B7 IL18R1 LGALS3 OGG1 PARP1 PCNA PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PTEN PTGS2 RECK SDHB SLC2A4 SMUG1 SORD TKTL1 UGT1A8 VCAN	10466 10682 1312 142 1462 1543 1545 1555 1586 1588 1591 1636 1718 2023 2194 2271 231 2331 23583 2720 27306 3292 3294 3958 4051 4968 5111 51478 5223 5290 5291 5293 5294 5319 54576 55741 5728 5743 57511 60495 6390 6517 6652 8277 8434 8809 9469 952 960	Homo sapiens (human)
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2	496628	Xenopus tropicalis (tropical clawed frog)
DOID:2513	basal cell carcinoma Aliases: Basal cell cancer Basal cell carcinoma of skin Basal cell neoplasm Basal cell tumor Epithelioma basal cell Rodent ulcer malignant Basal cell neoplasm malignant basal cell tumor	Ogg1 Tp53	24842 81528	Rattus norvegicus (Norway rat)
DOID:0060474	familial erythrocytosis 2 Aliases: Chuvash erythromatosis Chuvash polycythemia Chuvash type polycythemia ECYT2 autosomal recessive benign erythrocytosis	ACO1 BPGM CD177 CYB5R3 FH FUT1 G6PD HPRT1 PKLR SMUG1	1727 2271 23583 2523 2539 3251 48 5313 57126 669	Homo sapiens (human)
DOID:824	periodontitis Aliases: chronic pericementitis	ACACA ACE ALPP APRT CALR CAT CD14 CD1D CD38 CD44 CD74 CEACAM7 CHGA CYP1A1 CYP1B1 CYP2E1 DDOST DLD ENO1 ENO3 FCGR3B FCN2 FMOD GAD1 GGT1 GLT6D1 GPX1 HPGDS ICAM1 IL18R1 IL1R1 INPP5D KLRB1 MBL2 NAMPT NT5E OCRL PIK3CA PIK3CB PIK3CD PIK3CG PNP PPARA PTGDS PTGES2 PTGES3 PTGES PTGS2 RECK SELE SELL SFTPD SIGLEC5 SLC2A4 SLC33A1 SMC3 ST8SIA4 STS TNF TNFRSF10C VCAM1	10135 10728 1087 1113 1543 1545 1571 1636 1650 1738 2023 2027 2215 2220 2331 250 2571 2678 27306 2876 31 3383 353 3554 360203 3635 3820 412 4153 4860 4907 4952 5290 5291 5293 5294 5465 5730 5743 6401 6402 6441 6517 7124 7412 7903 80142 811 8434 847 8778 8794 8809 912 9126 9197 929 952 9536 960 972	Homo sapiens (human)
DOID:0110241	cataract 41 Aliases: CTRCT41 congenital nuclear type cataract 41	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0060868	leukoencephalopathy with vanishing white matter Aliases: CACH CACH/VWM childhood ataxia with central nervous system hypomyelination vanishing white matter leukodystrophy	ACOT12 APRT CHST11 GBA1 HAS2 MICA SCP2 SOAT1	100507436 134526 2629 3037 353 50515 6342 6646	Homo sapiens (human)
DOID:9312	chronic ethmoiditis Aliases: chronic ethmoid sinusitis chronic ethmoidal sinusitis ethmoidal sinusitis - chronic	CHI3L1 CLC CYP11A1 CYP11B1 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IL1RL1 LYZ PGM3 PLB1 PTGDS PTGS1 SELE SFTPA1 SFTPD	10855 1116 1178 151056 1583 1584 27306 3290 3291 3383 4069 5238 5730 5742 6401 6441 653509 9173	Homo sapiens (human)

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